| H01079 | |
| H番号 | H01079 |
| 名称 | 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency; PHGDH 欠損症 |
| 概要 | 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder caused by a defect in the synthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and infantile onset of intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF) and plasma. Mutations have been identified in PHGDH, the gene encoding 3-PGDH. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06033(H01079) Glycine, serine and arginine metabolism |
| 病因遺伝子 | PHGDH [HSA:26227] [KO:K00058] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.6 ICD-10: E72.8 MeSH: C566618 OMIM: 601815 |
| 文献 | PMID:21113737 著者 Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, Spaapen LJ, Haagen AA, Dorland L, de Koning TJ タイトル Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. 雑誌 J Inherit Metab Dis 34:181-4 (2011) DOI:10.1007/s10545-010-9249-5 PMID:19235232 著者 Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW タイトル Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. 雑誌 Hum Mutat 30:749-56 (2009) DOI:10.1002/humu.20934 PMID:19963421 著者 Tabatabaie L, Klomp LW, Berger R, de Koning TJ タイトル L-serine synthesis in the central nervous system: a review on serine deficiency disorders. 雑誌 Mol Genet Metab 99:256-62 (2010) DOI:10.1016/j.ymgme.2009.10.012 |